ECE2021 Audio Eposter Presentations Reproductive and Developmental Endocrinology (55 abstracts)
Hypogonadotropic hypogonadism revealing a classic form of 21 hydroxylase deficiency in a 39 year old man
Ilboudo Alassane 1 , Courtillot Carine 2 , Sagnan Yempabou 3 , Dubreuil Sophie 2 & Philippe Touraine 2
1CHUSS, Médecine inrerne, Bobo-Dioulasso, Burkina Faso; 2Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Médecine de la reproduction IE3M, Paris, France; 3CHUSS INSSA, Médecine Interne, Bobo-Dioulasso, Burkina Faso
Classical forms of 21 hydroxylase defisciency are generally observed during bith life and present as loss of salt or rapid puberty in young boy. We report a rare case of classical 21 hydroxylase defisciency presented as low gonadotrophines contrasted with normal level of testosterone. This was related to a 39 years old patient consulted for male infertility. Clinical exam was normal, including a normal level of blood tension. Liquid chromatography–tandem mass spectrometry revealed a high serum progesterone level, high 17-hydroxyprogesterone (17OHP) (262 ng/ml), and high levels of 17OHP metabolites, suggesting a classic form of 21OHD. Genetic exam has found heterozygoty with triple mutation of CYP21A2 gene including two forms of classical 21 hydroxylase defisciency. CT scann revealed a bilateral non nodular adrenal hyperplasia. Our case report illustrates the fact that a classic form of 21OHD can be diagnosed in late adulthood, manifested by hypogonadotropic hypogonadism and azoospermia, associated with elevated 17OHP.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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